Autism is an abnormal neurological development in children that shortchanges them in skills necessary for getting along in life. These, pervasive development disorders (PDDs) or another label, ASDs (autism spectrum disorders, are nearly always recognizable by the age of three. Copy number variation—sometimes spoken of as structural variation—has been identified, in a large number of incidences, on the DNA gene map.
This alteration affects those diagnosed with autism by limiting their ability to communicate, leaves them with less incentive to get involved with life activities, and overall diminishes their life experiences. Autism by its very nature denotes a lack of awareness, but Asperger’s disorder is somewhat outside this classification. Those afflicted are not necessarily lacking in language and cognitive ability.
As reported by Plosone, “A growing number of studies have demonstrated the potential contribution of copy number variations (CNVs) in the etiology of many complex disorders including autism, Alzheimer's disease, epilepsy, and schizophrenia”
Autism is the term most associated with ASDs and this disorder ranges widely in how it affects those afflicted with gene variants or mutations. The DNA hierarchy is a blueprint each individual is born with that maps out how the body’s cells are to perform. Nothing is left to chance.
Genes and their probabilities
However, due to mutations and changes in these, some instructions are missing or are wrongly interpreted or are evolving into change. That causes a lack of activity or performance, or a change in activity dependent upon the function the gene or genes were in charge of regulating. These changes may be slight or they may be more serious.
It’s a rare individual that isn’t somehow and to some degree misguided or misinformed by slight variations of his gene. Scientists are now learning more. Life is forever evolving and genes and cells and all living tissue that promotes life must change. Sometimes the change is good and sometimes the change is not so good.
What causes gene variations?
Life itself causes gene variations. The ways in which variations take effect are in new births. A new life is combination of both mother and father and often the genes of each are complimentary and a brilliant new person is formed. Unfortunately, not all of the parent’s genes are compatible and sometimes they are downright antagonistic. Is it possible cancellations occur? (Only scientists or God can answer that and you can bet both are working on it.)
Other ways mutations happen is environmental. Alleles, or variations of a gene to cell structures that have a direct bearing on the actions of that cell or cells, can bring about changes. Then, should that individual become a parent, it’s possible this alteration will be transferred on to the offspring. That’s why potential fathers are advised to be cautious when working with radioactive materials since possibly radiation will cause sperm changes. That’s only one way out of many that mutations occur.
How often do genes mutate?
There’s nothing particularly alarming about these variations in genes and it’s useless to worry over them happening—only awareness that it happens is a step forward—since they happen rarely. It is believed that a mutation occurs in only one out of 100,000 genes. That’s speaking of an individual gene, but considering that each person has a great many genes, they occur fairly regularly.
Gene variations can be harmful or they can be helpful or they can be neutral. It depends on the status of the organism involved. The variations that cause autism or any one of the other limiting disorders mentioned above are labeled as disorders rather than diseases since there’s a clear distinction between the two. A disease is a progressive deterioration of the cellular activity and a disorder is a structural abnormality that allows for aberrant or unusual behavior.